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Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases  [cached]
Rao Babu,Kerketta Lily,Korgaonkar Seema,Ghosh Kanjaksha
Indian Journal of Human Genetics , 2006,
Abstract: Background: The chromosomal polymorphism of short arms of acrocentric chromosomes and heterochromatin variation of Chromosomes 1, 9, 16 and Y have been reported in humans. The pericentric inversion of Chromosome 9 is commonly seen in normal humans and the frequency estimated to be 1 to 3% in general population and inherited in mendalian fashion or might occur spontaneously without any clinical significance. Aim: The aim of the study was to study the frequency of inv(9) and its clinical correlation with human genetic diseases. Materials and Methods:0 The chromosomal analysis using GTG-banding was carried out in 3,392 cases suspected with genetic diseases. Results: The pericentric inversion frequency of different chromosomes in our study was 1.24% and frequency of inv(9)(p12q13) was high (64.29%) compared to other pericentric inversions in our study. A high frequency (9.33%) of inv(9)(p12q13) was detected in children with dysmorphic features and congenital anomalies. Conclusion: As a high frequency of inv(9)(p12q13) detected in children with dysmorphic features, the inv(9) definitely have a role in the abnormal phenotype development. During inversion event there might be loss or suppression of euchromatin chromosome region and hence detailed chromosomal break point study is important to understand the clinical significance of the pericentric inversion of Chromosome 9.
Focal cortical dysplasia and pericentric inversion of chromosome 9: a case report
Giancarlo DI GENNARO,Addolorata MASCIA,Liliana G. GRAMMALDO,Fabio SEBASTIANO
Journal of Neurological Sciences , 2004,
Abstract: A child affected by multiple dysmorphisms and behavioral disorders with pericentric inversion on chromosome 9 [46 XY inv 9 (p11q11)] is reported. In this patient, a focal cortical dysplasia in right temporal lobe was observed on magnetic resonance imaging of the brain. To our knowledge, this report is the first description of focal cortical dysplasia in a patient of an occidental country with pericentric inversion of chromosome. 9. The relationship between alterations localised on chromosome 9 and cerebral cortical organisation disorders is discussed.
9号染色体臂间倒位21例分析 Analyses in 21 Cases of Pericentric Inversion of Chromosome 9
李永全,郑克勤,周汝滨,潘超仁,廖霞,陈小萍LI Yong-quan,ZHENG Ke-qin,ZHOU Ru-bin,PAN Chao-ren,LIAO Xia,CHEN Xiao-ping
遗传 , 1999,
Abstract: 在2 703例遗传咨询门诊病例中检出9号染色体臂间倒位21例,将本组inv(9)的频率与普通群体inv(9)的频率作比较,并通过对伴有其它性状的inv(9)家系的分析,讨论了inv(9)的遗传效应问题。 Abstract: Twenty one cases of pericentric inversion of chromosome 9 were found in 2703 patients asking genetic counseling. The percentage of inv(9) in this group was compared with that in normal population. Two special pedigrees with inv(9) were analyzed and the genetic effects of inv(9) were discussed.
A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report
Naeimeh Tayebi,Hossain Khodaei
Oman Medical Journal , 2011,
Abstract: Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2 20There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalanced offspring can be observed in carriers of a pericentric inversion. This is a case of pericentric inversion of one chromosome 21: inv (21) (p12; q22) in repeated pregnancy loss. A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal inversion and her partner’s karyotype was found to be normal. The karyotype of the proband is 46, xx, inv (21) (p12; q22). This abnormal karyotype is reported as a probable reason of miscarriage in the investigated couple. The risk of further miscarriages and the risk of a progeny with abnormal karyotype are rather high. Therefore, amniocenthesis for finding the chromosomal abnormality as a prenatal diagnosis are proposed for the patient if future pregnancy does not lead to miscarriage.
Homozygosity for Pericentric Inversions of Chromosome 9 in a Patient’s Parents with Stillbirth- Report of a New Case and Review of Literature
M Khaleghian,C Azimi
Iranian Journal of Public Health , 2006,
Abstract: Pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. A few cytogeneticists consider inversions of chromosome 9 as a normal variant. However, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. We report a case of homozygosity pericentric inversions of chromosome 9 in a woman with 28- wk stillbirth. In this case, her both parents were heterozygotes for the inversions of chromosome 9.
Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9.  [cached]
Parmar R,Sira P
Journal of Postgraduate Medicine , 2003,
Abstract: This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
OmpR, a response regulator of the two-component signal transduction pathway, influences inv gene expression in Yersinia enterocolitica O9  [PDF]
Marta Brzóstkowska,Adrianna Raczkowska,Katarzyna Brzostek
Frontiers in Cellular and Infection Microbiology , 2012, DOI: 10.3389/fcimb.2012.00153
Abstract: The environmental control of invasin (inv) expression in Yersinia enterocolitica is mediated by a regulatory network composed of negative and positive regulators of inv gene transcription. Previously, we demonstrated that OmpR, a response regulator of the two-component signal transduction pathway EnvZ/OmpR, negatively regulates inv gene expression in Y. enterocolitica O9 by direct interaction with the inv promoter region. This study was undertaken to clarify the role of OmpR in the inv regulatory circuit in which RovA protein has been shown to positively regulate inv transcription. Using ompR, rovA, and ompR rovA Y. enterocolitica mutant backgrounds we showed that the inhibitory effect of OmpR on inv transcription may be observed only when RovA is present/active in Y. enterocolitica cells. To extend our research on inv regulation we examined the effect of OmpR on rovA gene expression. Analysis of rovA-lacZ transcriptional fusion in Y. enterocolitica wild-type and ompR background indicated that OmpR does not influence rovA expression. Thus, our results indicate that OmpR influences inv expression directly via binding to the inv promoter, but not through modulation of rovA expression.
Common Acute Lymphoblastic Leukemia Ph+ Following Langerhans Cell Histiocytosis in a Multi-Malformed Child with INV (9) (p12;q13) (mat):Case Report  [PDF]
Paveli?,Jasminka,?uli?,Srdjana,?uli?,Vida
Acta Medica Okayama , 2010,
Abstract: The occurrence of Langerhans cell histiocytosis (LCH) and another malignancy in the same patient is infrequent but has been recognized. The genetic changes that could be responsible for LCH and/or concomitant leukemia development are obscure. To the best of our knowledge, this is the first description of constitutional maternally derived inv (9) (p12;q13) in an LCH patient, and also of the development of common ALL Ph after LCH diagnosis and therapy. The potential significance of these findings [inv (9)LCHALL Ph] and their mutual relationship are unknown. Therefore, cooperative studies of large numbers of patients are needed to identify the common risk factors, if any.
Infertility
A B Jose-Miller, J W Boyden, K A Frey
South African Family Practice , 2007,
Abstract: Infertility is defined as failure to achieve pregnancy during one year of frequent, unprotected intercourse. Evaluation generally begins after 12 months, but it can be initiated earlier if infertility is suspected based on history or if the female partner is older than 35 years. Major causes of infertility include male factors, ovarian dysfunction, tubal disease, endometriosis, and uterine or cervical factors. A careful history and physical examination of each partner can suggest a single or multifactorial aetiology and can direct further investigation. Ovulation can be documented with a home urinary luteinizing hormone kit. Hysterosalpingography and pelvic ultrasonography can be used to screen for uterine and fallopian tube disease. Hysteroscopy and/or laparoscopy can be used if no abnormalities are found on initial screening. Women older than 35 years also may benefit from ovarian reserve testing of follicle-stimulating hormone and estradiol levels on day 3 of the menstrual cycle, the clomiphene citrate challenge test, or pelvic ultrasonography for antral follicle count to determine treatment options and the likelihood of success. Options for the treatment of male factor infertility include gonadotropin therapy, intrauterine insemination, or in vitro fertilization. Infertility attributed to ovulatory dysfunction often can be treated with oral ovulation-inducing agents in a primary care setting. Women with poor ovarian reserve have more success with oocyte donation. In certain cases, tubal disease may be treatable by surgical repair or by in vitro fertilization. Infertility attributed to endometriosis may be amenable to surgery, induction of ovulation with intrauterine insemination, or in vitro fertilization. Unexplained infertility may be managed with ovulation induction, intrauterine insemination, or both. The overall likelihood of successful pregnancy with treatment is nearly 50 percent. South African Family Practice Vol. 49 (3) 2007: pp. 30-35
A Dysmorphic Child with a Pericentric Inversion of Chromosome 8
Venkateshwari Ananthapur,Srilekha Avvari,Sujatha Madireddi,Pratibha Nallari,Jyothy Akka
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/813963
Abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
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